Varaico: Literature-Extracted Genetic Variants

HIVEP1

148 papers

RefSeq Summary

This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fing...

Pfam Domains

zf-C2H2aa 434–456UCSCZinc finger, C2H2 type

zf-C2H2aa 2088–2110UCSCZinc finger, C2H2 type

zf-C2H2aa 2116–2140UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

HIVEP zinc finger 1

HGNC Alias Symbols

CIRIP; MBP-1; CRYBP1; PRDII-BF1; ZAS1; Schnurri-1; ZNF40A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002114.4

p.P433A

c.1297C>G

Surrounding Variants

1 paper

NM_002114.4

p.P433R

c.1298C>G

1 paper

NM_002114.4

p.N412delFs

c.1234delA

1 paper

NM_002114.4

p.D397Y

c.1189G>T

1 paper

NM_002114.4

p.S487S

c.1461A>T

1 paper

NM_002114.4

p.Y374C

c.1121A>G

1 paper

NM_002114.4

p.T366S

c.1096A>T

1 paper

NM_002114.4

p.A363T

c.1087G>A

1 paper

NM_002114.4

p.D507G

c.1520A>G

1 paper

NM_002114.4

p.S354C

c.1061C>G

1 paper

NM_002114.4

p.D353Y

c.1057G>T

1 paper

NM_002114.4

p.Q344P

c.1031A>C

1 paper

NM_002114.4

p.S333S

c.999T>G